Oculocutaneous albinism type 1: the last 100 years (Q35129945)

6 August 2017

1 reference

title

Oculocutaneous albinism type 1: the last 100 years (English)

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oculocutaneous albinism type 1

6 August 2017

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William S Oetting

1

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6 August 2017

James P Fryer

series ordinal

2

1 reference

6 August 2017

Sabitha Shriram

series ordinal

3

1 reference

6 August 2017

Richard A King

series ordinal

4

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6 August 2017

1 June 2003

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Pigment Cell & Melanoma Research

6 August 2017

1 reference

6 August 2017

16

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6 August 2017

3

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6 August 2017

307-311

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New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene

6 August 2017

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00045.X

7 January 2021

NOTES ON NEGRO ALBINISM

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https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00045.X

7 January 2021

NOTE ON MR. FARABEE'S OBSERVATIONS

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https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00045.X

7 January 2021

A new form of albinism

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00045.X

7 January 2021

Letter: Autosomal dominant inheritance in albinism

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00045.X

7 January 2021

Biochemistry of melanin formation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00045.X

7 January 2021

Marriage of two complete albinos with normally pigmented offspring

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00045.X

7 January 2021

Attempts to transfer eczematous contact-type allergy with whole blood transfusions

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00045.X

7 January 2021

Evidence of the indirect formation of the catecholic intermediate substrate responsible for the autoactivation kinetics of tyrosinase.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00045.X

7 January 2021

Hermansky-Pudlak syndrome: vesicle formation from yeast to man.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00045.X

7 January 2021

Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00045.X

7 January 2021

Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00045.X

7 January 2021

Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00045.X

7 January 2021

A splicing mutation of the tyrosinase gene causes yellow oculocutaneous albinism in a Japanese patient with a pigmented phenotype

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00045.X

7 January 2021

A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00045.X

7 January 2021

Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00045.X

7 January 2021

Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00045.X

7 January 2021

A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00045.X

7 January 2021

Alternative splicing of the tyrosinase gene transcript in normal human melanocytes and lymphocytes

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00045.X

7 January 2021

10.1034/J.1600-0749.2003.00045.X

Identifiers

DOI

1 reference

6 August 2017

1 reference